IEMbase 0695: NDUFA2-related NADH dehydrogenase alpha subcomplex subunit 2 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 695 |
| Nosology | 7.1.11.01 |
| Nosology code | IEM0423 |
| Gene | NDUFA2 |
| External IDs | OMIM:618235 for NDUFA2/MC1DN13; IEMbase source lists OMIM:256000; ORPHA:85136 |
| Generated mapping | CANDIDATE to COX10-Related_COX_Deficiency.yaml |
| Candidate DisMech targets | Broad complex I/Leigh context only; no exact NDUFA2 target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive NDUFA2-related NADH dehydrogenase alpha subcomplex subunit 2 deficiency, also labeled mitochondrial complex I deficiency, nuclear type 13.
The source lists OMIM:256000, which is a broad Leigh/mitochondrial respiratory chain identifier rather than the expected NDUFA2/MC1DN13 identifier OMIM:618235. The scope table records both so the source anomaly is not lost.
Biochemical rows show decreased fibroblast complex I activity in neonatal and infantile windows and increased plasma lactate through childhood. Clinical rows include lactic acidosis, Leigh syndrome, and leukoencephalopathy.
DisMech phenotype coverage
No exact NDUFA2 or MC1DN13 local target was identified.
Leigh_Syndrome.yaml covers shared Leigh-spectrum context, including complex I
deficiency as a cause of Leigh syndrome, lactate elevation, and white-matter or
brainstem/basal-ganglia neurologic involvement. It does not provide a
gene-specific NDUFA2 model.
The generated COX10-Related_COX_Deficiency.yaml candidate is a complex IV heme
A biosynthesis disorder and should not be accepted as exact coverage for an
NDUFA2 complex I subunit defect.
Concordance and completeness
Judgement: true local gap with broad Leigh overlap only.
The IEMbase record is sparse but specific: NDUFA2 loss, decreased complex I activity, lactate elevation, lactic acidosis, Leigh syndrome, and leukoencephalopathy. DisMech currently has only the syndrome-level context, not the gene-specific disease entity.
Curation actions
- Add a dedicated NDUFA2/MC1DN13 target if curated.
- Reject COX10-related complex IV deficiency as exact coverage.
- Preserve the source OMIM discrepancy for review before downstream identifier use.
- Preserve decreased fibroblast complex I activity, increased plasma lactate, lactic acidosis, Leigh syndrome, and leukoencephalopathy.